ERCC5, ERCC excision repair 5, endonuclease, 2073

N. diseases: 238; N. variants: 38
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2296147
rs2296147
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.040 GeneticVariation BEFREE XPG rs2296147 polymorphism could be predictive of unfavorable prognosis of CRC patients. 26887052 2016
dbSNP: rs2094258
rs2094258
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.050 GeneticVariation BEFREE Xeroderma pigmentosum group G rs2094258 polymorphism was associated with an increased risk of GC in a Chinese population. 29732643 2018
dbSNP: rs121434575
rs121434575
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.800 GeneticVariation UNIPROT A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. 9096355 1997
dbSNP: rs267607280
rs267607280
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.800 GeneticVariation UNIPROT A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. 9096355 1997
dbSNP: rs267607281
rs267607281
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.800 GeneticVariation UNIPROT A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. 9096355 1997
dbSNP: rs121434576
rs121434576
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.710 GeneticVariation UNIPROT A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. 9096355 1997
dbSNP: rs121434571
rs121434571
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.700 GeneticVariation UNIPROT A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. 9096355 1997
dbSNP: rs121434574
rs121434574
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.700 GeneticVariation UNIPROT A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. 9096355 1997
dbSNP: rs121434575
rs121434575
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
dbSNP: rs267607280
rs267607280
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
dbSNP: rs267607281
rs267607281
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
dbSNP: rs121434576
rs121434576
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.710 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
dbSNP: rs121434571
rs121434571
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.700 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
dbSNP: rs121434574
rs121434574
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.700 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum 		0.060 GeneticVariation BEFREE Association study between XPG Asp1104His polymorphism and colorectal cancer risk in a Chinese population. 25332048 2014
dbSNP: rs751402
rs751402
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0024623
Disease:
Malignant neoplasm of stomach 		0.100 GeneticVariation BEFREE By unconditional logistic regression analysis, we</span> observed that the TT genotype in rs751402</span> was significantly associated with increased risk to gastric cancer as compared with the CC genotype, and the adjusted OR (95%CI) was 2.17 (1.15-4.09). 27706622 2016
dbSNP: rs751402
rs751402
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0699791
Disease:
Stomach Carcinoma 		0.100 GeneticVariation BEFREE By unconditional logistic regression analysis, we</span> observed that the TT genotype in rs751402</span> was significantly associated with increased risk to gastric cancer as compared with the CC genotype, and the adjusted OR (95%CI) was 2.17 (1.15-4.09). 27706622 2016
dbSNP: rs2227869
rs2227869
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0040136
Disease:
Thyroid Neoplasm 		0.010 GeneticVariation BEFREE Considering papillary TC, the rs2228001 (XPC) variant genotype was associated with increased risk (OR=2.33, 95% CI=1.05-5.16), while a protective effect was observed for rs2227869 (ERCC5) (OR=0.26, 95% CI=0.08‑0.90, for heterozygous; OR=0.25, 95% CI=0.07-0.86, for variant allele carriers). 23982724 2013
dbSNP: rs2227869
rs2227869
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0007115
Disease:
Malignant neoplasm of thyroid 		0.010 GeneticVariation BEFREE Considering papillary TC, the rs2228001 (XPC) variant genotype was associated with increased risk (OR=2.33, 95% CI=1.05-5.16), while a protective effect was observed for rs2227869 (ERCC5) (OR=0.26, 95% CI=0.08‑0.90, for heterozygous; OR=0.25, 95% CI=0.07-0.86, for variant allele carriers). 23982724 2013
dbSNP: rs2227869
rs2227869
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0549473
Disease:
Thyroid carcinoma 		0.010 GeneticVariation BEFREE Considering papillary TC, the rs2228001 (XPC) variant genotype was associated with increased risk (OR=2.33, 95% CI=1.05-5.16), while a protective effect was observed for rs2227869 (ERCC5) (OR=0.26, 95% CI=0.08‑0.90, for heterozygous; OR=0.25, 95% CI=0.07-0.86, for variant allele carriers). 23982724 2013
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0686619
Disease:
Secondary malignant neoplasm of lymph node 		0.010 GeneticVariation BEFREE Cox proportional hazards analyses demonstrated that variant genotypes of XPG Asp1104His [hazard ratio (HR) = 1.692, 95% confidence interval (95%CI): 1.202-2.383, P = 0.003] as well as pathology grade (HR = 2.545, 95%CI: 2.139-3.030, P < 0.001), and lymph node metastases (HR = 1.851, 95%CI: 1.306-2.625, P < 0.001) were predictive of shorter PFS for the CRC patients with Oxaliplatin-based adjuvant chemotherapy. 22213216 2012
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0023269
Disease:
leiomyosarcoma 		0.010 GeneticVariation BEFREE DNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosarcomas protuberans (DFSP), malignant fibrous histiocytomas and leiomyosarcomas were genotyped for both XPD Lys751Gln and XPG Asp1104His polymorphisms. 16646069 2006
dbSNP: rs1047768
rs1047768
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE ERCC1 Lys259Thr (rs735482), ERCC2 Lys751Gln (rs13181), ERCC5 His46His C>T (rs1047768), XRCC1 Arg399Gln (rs25487), TP53 Arg72Pro (rs1042522) and MDM2 309T>G (rs2279744) were analyzed on tumor DNA. 28351583 2017
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0006826
Disease:
Malignant Neoplasms 		0.050 GeneticVariation BEFREE ERCC1 rs11615 and ERCC5 rs17655 polymorphisms were associated with a moderately increased risk of this cancer in ever drinkers. 24563277 2014
dbSNP: rs17655
rs17655
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.050 GeneticVariation BEFREE ERCC1 rs11615 and ERCC5 rs17655 polymorphisms were associated with a moderately increased risk of this cancer in ever drinkers. 24563277 2014